NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report

• Main Authors: Chun-Chun Hu (Author), Yun-Jun Sun (Author), Chun-xue Liu (Author), Bing-rui Zhou (Author), Chun-yang Li (Author), Qiong Xu (Author), Xiu Xu (Author)
• Format: Book
• Published: BMC, 2018-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder in which genetics plays a key aetiological role. The gene encoding NAD(P)H steroid dehydrogenase-like protein (NSDHL) is expressed in developing cortical neurons and glia, and its mutation may result in intellectual...